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Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

2019-03Journal article Restricted access
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dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorJotta, Rita
dc.contributor.authorRamos, Ruben
dc.contributor.authorFlorindo, Cristina
dc.contributor.authorVentura, Fátima V.
dc.contributor.authorVilarinho, Laura
dc.contributor.authorTavares de Almeida, Isabel
dc.contributor.authorGaspar, Ana
dc.date.accessioned2020-05-11T18:31:42Z
dc.date.available2020-05-11T18:31:42Z
dc.date.issued2019-03
dc.description.abstractFatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death. Expanded newborn screening (ENS) for these disorders, hopefully, contribute to prevent potentially acute life-threatening events. In order to characterize acute decompensations observed in FAO-deficient cases identified by ENS, a retrospective analysis was performed, covering a period of 9 years. Demographic data, number/type of acute decompensations, treatment, and follow-up were considered. Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. Nineteen patients had acute decompensations (1 CPT I, 1 CPT II, 3 MADD, 14 MCADD). Six patients developed symptoms previously to ENS diagnosis. Severe clinical manifestations included multiple organ failure, liver failure, heart failure, and sudden death. Long-chain FAO disorders had the highest number of decompensations per patient. Conclusion: Despite earlier diagnosis by ENS, sudden deaths were not avoided and acute decompensations with severe clinical manifestations still occur as well.pt_PT
dc.description.abstractWhat is Known: Severe ventricular arrhythmias are suspected to cause unexpected death in FAO disorders; Neonatal screening intends to reduce the incidence of severe metabolic crisis and death. What is New: Acute severe decompensations occurred in FAO disorders diagnosed through neonatal screening; Sudden deaths were not avoided by starting treatment precociously.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Pediatr. 2019 Mar;178(3):387-394. doi: 10.1007/s00431-018-03315-2. Epub 2019 Jan 7pt_PT
dc.identifier.doi10.1007/s00431-018-03315-2pt_PT
dc.identifier.issn0340-6199
dc.identifier.urihttp://hdl.handle.net/10400.18/6652
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007%2Fs00431-018-03315-2pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectAcyl-CoA Dehydrogenasept_PT
dc.subjectAcyl-CoA Dehydrogenase, Long-Chainpt_PT
dc.subjectAmino Acid Metabolism, Inborn Errorspt_PT
dc.subjectCardiomyopathiespt_PT
dc.subjectCarnitinept_PT
dc.subjectCarnitine O-Palmitoyltransferasept_PT
dc.subjectChildpt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectCongenital Bone Marrow Failure Syndromespt_PT
dc.subjectEarly Diagnosispt_PT
dc.subjectFemalept_PT
dc.subjectFollow-Up Studiespt_PT
dc.subjectHumanspt_PT
dc.subjectHyperammonemiapt_PT
dc.subjectHypoglycemiapt_PT
dc.subjectInfantpt_PT
dc.subjectInfant, Newbornpt_PT
dc.subjectLipid Metabolism, Inborn Errorspt_PT
dc.subjectMalept_PT
dc.subjectMetabolism, Inborn Errorspt_PT
dc.subjectMitochondrial Diseasespt_PT
dc.subjectMultiple Acyl Coenzyme A Dehydrogenase Deficiencypt_PT
dc.subjectMuscular Diseasespt_PT
dc.subjectNeonatal Screeningpt_PT
dc.subjectPrognosispt_PT
dc.subjectRetrospective Studiespt_PT
dc.subjectSeverity of Illness Indexpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleFollow-up of fatty acid β-oxidation disorders in expanded newborn screening erapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage394pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage387pt_PT
oaire.citation.titleEuropean Journal of Pediatricspt_PT
oaire.citation.volume178pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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